ĐÁNH GIÁ KẾT QUẢ SÀNG LỌC SƠ SINH BẰNG PHƯƠNG PHÁP LẤY MÁU GÓT CHÂN TẠI BỆNH VIỆN SẢN NHI NGHỆ AN TỪ 01/1/2022 – 30/6/2022

Abstract

Background: Newborn Screening is a screening program that helps to detect common and
treatable or preventable congenital metabolic-endocrine and genetic disorders in newborn babies.
Detected through a screening test kit for 5 diseases: G6PD deficiency, congenital hypothyroidism,
congenital adrenal hyperplasia, Galactosemia, Phenylketonuria
Objectives: Determine the rate of newborns at high risk of 5 diseases and the relationship with
epidemiological factors.
Methods: Using cross-sectional descriptive method for newborns full 24-72 hours old born at
Nghe An Obstetrics and Pediatrics Hospital from January 2022 to June 2022.
Results: Through surveying 3147 samples of heel in newborns, we found that the abnormal rate
of newborn screening tests accounted for the following: G6PD deficiency accounted for 0,86%, of
which, male accounted for 70,37%, girls account for 29.63%. Congenital hypothyroidism is
0.22%. Congenital adrenal hyperplasia is 0,13%. Phenylketonuria was 0,1% and none of the
children were in the high-risk group for galactosemia.
Conclusions: 5 newborn screening diseases, if detected early, can be prevented and treated so
that children can have a completely healthy life. Therefore, it is necessary to strengthen screening
counseling to improve population quality and improve living standards.